Canonical Allele Identifier: CA10589549

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267141
• ClinVar RCV Id: RCV000257303
• dbSNP Id: rs886040821
• MyVariant Identifiers: chr13:g.32954160del (hg19) ; chr13:g.32380023del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380023del , CM000675.2:g.32380023del	GRCh38
NC_000013.10:g.32954160del , CM000675.1:g.32954160del	GRCh37
NC_000013.9:g.31852160del	NCBI36
NG_012772.3:g.69544del , LRG_293:g.69544del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9134del	ENSP00000434898.2:p.Leu3045TyrfsTer17
ENST00000528762.2:c.*501del	ENSP00000433168.2:n.*501del
ENST00000530893.7:c.8765del	ENSP00000499438.2:p.Leu2922TyrfsTer17
ENST00000665585.2:c.*696del	ENSP00000499570.2:n.*696del
ENST00000666593.2:c.9134del	ENSP00000499256.2:p.Leu3045TyrfsTer17
ENST00000700202.2:c.9083del	ENSP00000514856.2:p.Leu3028TyrfsTer17
ENST00000700202.1:c.1550del	ENSP00000514856.1:p.Leu517TyrfsTer17
ENST00000700203.1:n.1261del
ENST00000380152.8:c.9134del MANE Select	ENSP00000369497.3:p.Leu3045TyrfsTer17
ENST00000544455.6:c.9134del	ENSP00000439902.1:p.Leu3045TyrfsTer17
ENST00000614259.2:c.9142del	ENSP00000506251.1:n.9142del
ENST00000665585.1:c.2012del
ENST00000666593.1:c.17del	ENSP00000499256.1:p.Leu6TyrfsTer17
ENST00000680887.1:c.9134del	ENSP00000505508.1:p.Leu3045TyrfsTer17
ENST00000380152.7:c.9134del	ENSP00000369497.3:p.Leu3045TyrfsTer17
ENST00000470094.1:c.91del
ENST00000544455.5:c.9134del	ENSP00000439902.1:p.Leu3045TyrfsTer17
NM_000059.3:c.9134del , LRG_293t1:c.9134del	NP_000050.2:p.Leu3045TyrfsTer17
XM_011535203.1:c.9134del	XP_011533505.1:p.Leu3045TyrfsTer17
XM_011535204.1:c.9038del	XP_011533506.1:p.Leu3013TyrfsTer17
NM_000059.4:c.9134del MANE Select	NP_000050.3:p.Leu3045TyrfsTer17